Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 Families

RATIONALE & OBJECTIVE: Mono-allelic variants in COL4A3 and COL4A4 (COL4A3/COL4A4) have been identified in a spectrum of glomerular basement membrane nephropathies, including thin basement membrane nephropathy and autosomal dominant Alport syndrome. With the increasing use of next generation sequ...

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Detalles Bibliográficos
Autores principales: Groen in ’t Woud, Sander, Rood, Ilse M., Steenbergen, Eric, Willemsen, Brigith, Dijkman, Henry B., van Geel, Michel, Schoots, Jeroen, Wetzels, Jack F.M., Lugtenberg, Dorien, Deegens, Jeroen K.J., Bongers, Ernie M.H.F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10011433/
https://www.ncbi.nlm.nih.gov/pubmed/36925663
http://dx.doi.org/10.1016/j.xkme.2023.100607

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10011433/
https://www.ncbi.nlm.nih.gov/pubmed/36925663
http://dx.doi.org/10.1016/j.xkme.2023.100607

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